Kaufman oculocerebrofacial syndrome in a girl of 15 years.

Abstract

Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet. To our knowledge only 8 cases have been reported so far, diagnosed at a mean age of 10 years. We report on a girl who was diagnosed at 15 years. Further phenotypic delineation is needed to improve diagnosis of this syndrome early in life.

• Authors: V Briscioli, S Manoukian, A Selicorni, E Livini, F Lalatta
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 58 Issue 1 Pg. 21-3 (Jul 31 1995) ISSN: 0148-7299 [Print] United States
• PMID: 7573151 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Abnormalities, Multiple (genetics)
• Adolescent
• Child
• Eye Abnormalities (diagnosis, genetics)
• Facial Bones (abnormalities, diagnostic imaging)
• Female
• Foot Deformities, Congenital (diagnosis, genetics)
• Genes, Recessive
• Hand Deformities, Congenital (diagnosis, genetics)
• Humans
• Male
• Phenotype
• Radiography
• Syndrome